Thyroid cancer in a patient with a germline MSH2 mutation. Case report and review of the Lynch syndrome expanding tumour spectrum

Table 3 Tumours observed in patients with bi-allelic MMR gene germline mutations

Tumour type	MLH1 mean age (range), N	MSH2 mean age (range), N	MSH6 mean age (range), N	PMS2 mean age (range), N
Acute leukaemia	2, 1/14
Acute myeloid leukaemia	6, 1/14		7, 1/15
Atypical chronic myeloid leukaemia	1, 1/14
B-acute lymphatic leukaemia				10 (10), 1/43
T-acute lymphatic leukaemia/T cell leukaemia		2, 1/7		2 (2), 1/43
Lymphoblastic lymphoma			5, 1/15	9 (6-15), 3/43
NHL/T-cell lymphoma	3, 1/14	1.7 (1-2), 3/7	10, 1/15	11 (3-17), 4/43
Small bowel carcinoma, not specified				15.5 (15-16), 2/43
Adenocarcinoma duodenum	11, 1/14
Breast cancer	35, 1/14
Colorectal cancer	22 (9-35), 3/14	11.5 (11-12), 2/7	16.6 (8-31), 5/15	15.9 (11-24), 10/43
Endometrial cancer			24, 1/15	23.5 (23-24), 2/43
Brain tumour, not specified				24 (24), 1/43
Glioma	4, 1/14			15 (15), 1/43
Astrocytoma/glioblastoma (multiforme)	4, 1/14	3, 1/7	8 (7-9), 3/15	7.1 (2-17), 8/43
Glioblastoma of the spinal cord			2, 1/15
Oligodendroglioma			10, 1/15	16.5 (14-19), 2/43
Infantile myofibromatosis				1 (1), 1/43
Medulloblastoma	7, 1/14		7, 1/15
Neuroblastoma				13 (13), 1/43
Primitive neuroectodermal tumour (PNET) of brain or ovary				11 (4-21), 5/43
Sarcoma	65, 1/14
Ureter/renal pelvis carcinoma				15 (15), 1/43
Wilms' tumour	4, 1/14
Total	14 (11 patients)	7 (7 patients)	15 (10 patients)	43 (28 patients)

For each MMR gene and each of the tumours, the mean age at diagnosis is given in years. If more than one tumour was reported for each type then the range of ages at diagnosis is shown between brackets. The number of each of the tumour types observed for a particular MMR gene is shown as number/total of tumours reported for that gene in bi-allelic mutation carriers. Multiple primary tumours were reported frequently and the total number of reported tumours and total number of patients are presented in the last row for each of the genes [20–44]

ISSN: 1897-4287